Varaico: Literature-Extracted Genetic Variants

Gene:BRWD3
Variant:p.Y232*
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BRWD3

NM_153252.5:p.Y232*

Associated Papers

Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

Ostrowski PJ et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Tatton-Brown K et al.

American Journal of Human Genetics, 2017

28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Grozeva D et al.

Human Mutation, 2015

26350204 (PubMed )
Supplement: HUMU-36-1197-s001.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."